Type 1 Tyrosinemia is a condition in which one's body is incapable of metabolizing the amino acid Tyrosine. This condition typically pops up at birth and is not something you would usually just contract. The symptoms that can give Type 1 Tyrosinemia are rapid weight loss, an enlarged liver, and the yellowing of skin and eyes (As seen in the picture above).
Type 1 Tyrosinemia is an autosomal recessive condition, this means that both parents carry a copy of the gene but may not be affected by it. This condition results from mutations in the FAH gene which is responsible for creating the enzyme that breaks down tyrosine.
Is Type 1 Tyrosinemia treatable?
This condition is treatable with a medicine known as Orfadin, this formula helps the body deal with the buildup of tyrosine. The affected must make sure their diet is low in tyrosine if they plan on using the medicine, or if they just plan on staying alive really. An affected individual could also get a liver transplant, this is only if an affected infant develops early liver failure.
How rare is this disorder?
This disorder is extremely rare, only showing up once out every 100,000 to 120,000 infants.
Type 1 Tyrosinemia
What is this condition anyway?
Type 1 Tyrosinemia is a condition in which one's body is incapable of metabolizing the amino acid Tyrosine. This condition typically pops up at birth and is not something you would usually just contract. The symptoms that can give Type 1 Tyrosinemia are rapid weight loss, an enlarged liver, and the yellowing of skin and eyes (As seen in the picture above).
Type 1 Tyrosinemia is an autosomal recessive condition, this means that both parents carry a copy of the gene but may not be affected by it. This condition results from mutations in the FAH gene which is responsible for creating the enzyme that breaks down tyrosine.
Is Type 1 Tyrosinemia treatable?
This condition is treatable with a medicine known as Orfadin, this formula helps the body deal with the buildup of tyrosine. The affected must make sure their diet is low in tyrosine if they plan on using the medicine, or if they just plan on staying alive really. An affected individual could also get a liver transplant, this is only if an affected infant develops early liver failure.How rare is this disorder?
This disorder is extremely rare, only showing up once out every 100,000 to 120,000 infants.
Works Cited
https://ghr.nlm.nih.gov/condition/tyrosinemia#inheritance
https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1
https://en.wikipedia.org/wiki/Type_I_tyrosinemia